Linked Data
ClinVar Variation Id:
133223
ClinVar RCV Id:
RCV000119746
RCV000147446
RCV000202878
RCV000335435
RCV000392959
RCV000209984
RCV001079361
RCV000403812
RCV001802881
RCV002498553
dbSNP Id:
rs35180584
ExAC:
19:38995998 C / G
gnomAD v2:
19-38995998-C-G
gnomAD v3:
19-38505358-C-G
gnomAD v4:
19-38505358-C-G
PubMed:
PMID:24195946
ERepo:
CA024914/MONDO:0018493/012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38505358C>G , CM000681.2:g.38505358C>G | GRCh38 |
| NC_000019.9:g.38995998C>G , CM000681.1:g.38995998C>G | GRCh37 |
| NC_000019.8:g.43687838C>G | NCBI36 |
| NG_008866.1:g.76659C>G , LRG_766:g.76659C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.8360C>G | ENSP00000471601.2:p.Thr2787Ser | |
| ENST00000359596.8:c.8360C>G MANE Select | ENSP00000352608.2:p.Thr2787Ser | |
| ENST00000355481.8:c.8360C>G | ENSP00000347667.3:p.Thr2787Ser | |
| ENST00000359596.7:c.8360C>G | ENSP00000352608.2:p.Thr2787Ser | |
| ENST00000360985.7:c.8357C>G | ENSP00000354254.4:p.Thr2786Ser | |
| ENST00000594335.5:c.1812C>G | ||
| NM_000540.2:c.8360C>G , LRG_766t1:c.8360C>G | NP_000531.2:p.Thr2787Ser | |
| NM_001042723.1:c.8360C>G | NP_001036188.1:p.Thr2787Ser | |
| XM_006723317.1:c.8360C>G | XP_006723380.1:p.Thr2787Ser | |
| XM_006723319.1:c.8360C>G | XP_006723382.1:p.Thr2787Ser | |
| XM_011527204.1:c.8357C>G | XP_011525506.1:p.Thr2786Ser | |
| XM_011527205.1:c.8360C>G | XP_011525507.1:p.Thr2787Ser | |
| XM_006723317.2:c.8360C>G | XP_006723380.1:p.Thr2787Ser | |
| XM_006723319.2:c.8360C>G | XP_006723382.1:p.Thr2787Ser | |
| XM_011527205.2:c.8360C>G | XP_011525507.1:p.Thr2787Ser | |
| XR_001753735.1:n.8443C>G | ||
| NM_000540.3:c.8360C>G MANE Select | NP_000531.2:p.Thr2787Ser | |
| NM_001042723.2:c.8360C>G | NP_001036188.1:p.Thr2787Ser |